MCID: PNM010
MIFTS: 33

Pneumothorax, Primary Spontaneous

Categories: Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pneumothorax, Primary Spontaneous

MalaCards integrated aliases for Pneumothorax, Primary Spontaneous:

Name: Pneumothorax, Primary Spontaneous 54 29 13 69
Spontaneous Pneumothorax 50 24 25 29 52 69
Primary Spontaneous Pneumothorax 50 25 71
Familial Spontaneous Pneumothorax 50 56
Pneumothorax 25 69
Psp 25 71

Characteristics:

Orphanet epidemiological data:

56
familial spontaneous pneumothorax
Inheritance: Autosomal dominant;

OMIM:

54
Miscellaneous:
bullae are located randomly in familial cases and apical in sporadic cases
incomplete penetrance
allelic to birt-hogg-dube syndrome
majority of cases are sporadic, often in tall, thin men

Inheritance:
autosomal dominant


HPO:

32
pneumothorax, primary spontaneous:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 56  
Rare respiratory diseases


External Ids:

OMIM 54 173600
Orphanet 56 ORPHA2903
ICD10 via Orphanet 34 J93.1
MedGen 40 C1868193
SNOMED-CT via HPO 65 263681008 36118008 80423007

Summaries for Pneumothorax, Primary Spontaneous

NIH Rare Diseases : 50 primary spontaneous pneumothorax is an abnormal accumulation of air in the pleural space (the space between the lungs and the chest cavity) that can result in the partial or complete collapse of a lung. it is called primary because it occurs in the absence of lung disease such as emphysema and spontaneous because the pneumothhorax was not caused by an injury such as a rib fracture. primary spontaneous pneumothorax is likely caused by the formation of small sacs of air (blebs) in lung tissue that rupture, causing air to leak into the pleural space. this air creates pressure on the lung and can lead to its collapse. symptoms may include chest pain on the side of the collapsed lung and shortness of breath. the blebs that lead to primary spontaneous pneumothorax may be present in an individual's lung (or lungs) for a long time before they rupture. a change in air pressure or a very sudden deep breath may cause a rupture to occur. in most cases, there are no prior signs of illness. once a bleb ruptures and causes a pneumothorax, rates for recurrence may be as high as 13 to 60 percent. many researchers believe that genetic factors may play a role in the development of primary spontaneous pneumothorax. in rare cases, the condition can be caused by mutations in the flcn gene. in these cases, the condition follows an autosomal dominant pattern of inheritance. in addition, several genetic disorders have been linked to primary spontaneous pneumothorax, including marfan syndrome, homocystinuria, and birt-hogg-dube syndrome. last updated: 6/17/2015

MalaCards based summary : Pneumothorax, Primary Spontaneous, also known as spontaneous pneumothorax, is related to supranuclear palsy, progressive and birt-hogg-dube syndrome, and has symptoms including pneumothorax, abnormality of the pleura and spontaneous pneumothorax. An important gene associated with Pneumothorax, Primary Spontaneous is FLCN (Folliculin). The drugs Minocycline and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include lung, colon and skin.

UniProtKB/Swiss-Prot : 71 Primary spontaneous pneumothorax: Condition in which air is present in the pleural space in the absence of a precipitating event, such as trauma or lung disease. This results in secondary collapse of the lung, either partially or completely, and some degree of hypoxia. PSP is relatively common, with an incidence between 7.4-18/100'000 for men and 1.2-6/100'000 for women and a dose- dependent, increased risk among smokers. Most cases are sporadic, typically occurring in tall, thin men aged 10-30 years and generally while at rest. Familial PSP is rarer and usually is inherited as an autosomal dominant condition with reduced penetrance, although X- linked recessive and autosomal recessive inheritance have also been suggested.

Genetics Home Reference : 25 Primary spontaneous pneumothorax is an abnormal accumulation of air in the space between the lungs and the chest cavity (called the pleural space) that can result in the partial or complete collapse of a lung. This type of pneumothorax is described as primary because it occurs in the absence of lung disease such as emphysema. Spontaneous means the pneumothorax was not caused by an injury such as a rib fracture. Primary spontaneous pneumothorax is likely due to the formation of small sacs of air (blebs) in lung tissue that rupture, causing air to leak into the pleural space. Air in the pleural space creates pressure on the lung and can lead to its collapse. A person with this condition may feel chest pain on the side of the collapsed lung and shortness of breath.

OMIM : 54
Birt-Hogg-Dube syndrome (BHD; 135150), which is characterized by spontaneous pneumothorax as well as by fibrofolliculomas of the skin and increased risk of renal and colonic tumors, is caused by mutation in the FLCN gene. Gunji et al. (2007) suggested that isolated primary spontaneous pneumothorax associated with FLCN mutations may be part of the clinical spectrum of BHD, showing incomplete disease penetrance. Spontaneous pneumothorax is a complication of certain heritable disorders of connective tissue, particularly the Marfan syndrome (154700) and the Ehlers-Danlos syndrome (see, e.g., 130000). Pulmonary bullae can also occur with alpha-1-antitrypsin deficiency (613490). (173600)

Related Diseases for Pneumothorax, Primary Spontaneous

Graphical network of the top 20 diseases related to Pneumothorax, Primary Spontaneous:



Diseases related to Pneumothorax, Primary Spontaneous

Symptoms & Phenotypes for Pneumothorax, Primary Spontaneous

Symptoms via clinical synopsis from OMIM:

54

Respiratory- Lung:
pneumothorax
subpleural blebs
bullae


Clinical features from OMIM:

173600

Human phenotypes related to Pneumothorax, Primary Spontaneous:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pneumothorax 56 32 hallmark (90%) Very frequent (99-80%) HP:0002107
2 abnormality of the pleura 56 32 hallmark (90%) Very frequent (99-80%) HP:0002103
3 spontaneous pneumothorax 32 HP:0002108
4 abnormality of the respiratory system 56 Very frequent (99-80%)

UMLS symptoms related to Pneumothorax, Primary Spontaneous:


dyspnea, hemoptysis

Drugs & Therapeutics for Pneumothorax, Primary Spontaneous

Drugs for Pneumothorax, Primary Spontaneous (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 36)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Minocycline Approved, Investigational Phase 3,Phase 2 10118-90-8 5281021
2 Anti-Bacterial Agents Phase 3,Phase 2
3 Anti-Infective Agents Phase 3,Phase 2
4 Anesthetics Phase 2, Phase 3
5
Benzocaine Approved 1994-09-7, 94-09-7 2337
6
Dexmedetomidine Approved, Vet_approved 76631-46-4, 113775-47-6 68602 5311068 56032
7
Ketamine Approved, Vet_approved 6740-88-1 3821
8
Lidocaine Approved, Vet_approved 137-58-6 3676
9
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
10
Rocuronium Approved 119302-91-9, 143558-00-3 441290
11
Sevoflurane Approved, Vet_approved 28523-86-6 5206
12 tannic acid Approved, Nutraceutical
13 Adrenergic Agents
14 Adrenergic Agonists
15 Adrenergic alpha-2 Receptor Agonists
16 Adrenergic alpha-Agonists
17 Analgesics
18 Analgesics, Non-Narcotic
19 Anesthetics, Dissociative
20 Anesthetics, General
21 Anesthetics, Inhalation
22 Anesthetics, Intravenous
23 Anesthetics, Local
24 Anti-Arrhythmia Agents
25 Central Nervous System Depressants
26 Diuretics, Potassium Sparing
27 Excitatory Amino Acid Antagonists
28 Excitatory Amino Acids
29 Hypnotics and Sedatives
30 Neuromuscular Agents
31 Neuromuscular Blocking Agents
32 Neuromuscular Nondepolarizing Agents
33 Neurotransmitter Agents
34 Peripheral Nervous System Agents
35 Platelet Aggregation Inhibitors
36 Sodium Channel Blockers

Interventional clinical trials:

(show all 23)

id Name Status NCT ID Phase Drugs
1 Improving Primary Spontaneous Pneumothorax (PSP) Treatment Techniques in VATS Unknown status NCT01463553 Phase 4
2 Intrapleural Minocycline After Simple Aspiration for the Prevention of Primary Spontaneous Pneumothorax Unknown status NCT00418392 Phase 3
3 Additional Minocycline Pleurodesis After Thoracoscopic Procedures for Primary Spontaneous Pneumothorax Unknown status NCT00154895 Phase 3 intrapleural minocycline instillation
4 Pleural Abrasion Plus Minocycline Versus Apical Pleurectomy for Primary Spontaneous Pneumothorax Unknown status NCT00270751 Phase 2, Phase 3
5 Chest Tube Drainage or Thoracoscopic Surgery for Failed Aspiration of Spontaneous Pneumothorax Unknown status NCT00713362 Phase 2, Phase 3
6 Efficacy of the Additional Mechanical Pleurodesis for Surgical Management of Primary Spontaneous Pneumothorax Completed NCT00615849 Phase 3
7 Absorbable Mesh Pleurodesis in Thoracoscopic Treatment of Spontaneous Pneumothorax Recruiting NCT01848860 Phase 2, Phase 3
8 Effect of Dissecting of The Inferior Pulmonary Ligament on Postoperative Pulmonary Reexpansion and Recurrence Recruiting NCT02558608 Phase 3
9 Prevalence of Spontaneous Pneumothorax in BHD Recruiting NCT02916992 Phase 1
10 Pathogenesis of Primary Spontaneous Pneumothorax Unknown status NCT01135004
11 Comparison of Exsufflation Versus Drainage in Primary Spontaneous Pneumothorax Unknown status NCT01008228
12 Intrapleural Minocycline After Aspiration of Spontaneous Pneumothorax Unknown status NCT00839553
13 A Comparative Study of the Safety and Efficacy of Face Talc Slurry and Iodopovidone for Pleurodesis Unknown status NCT00430664
14 A Prospective Randomised Study of Efficacy, Safety and Costs of Talc Pleurodesis Under Medical Thoracoscopy and Pleurodesis Under Video-assisted Thoracoscopy Surgery for Recurrent Primary Spontaneous Pneumothorax Completed NCT00767962
15 Intrapleural Minocycline Following Simple Aspiration for Primary Spontaneous Pneumothorax Completed NCT00520221
16 Comparative Study of Nonintubated Anesthesia Versus Intubated General Anesthesia in Single Port Thoracoscopic Bullectomy Completed NCT02109510 nonintubated sedation anesthesia with dexmedetomidine IV, ketamine IV and intercostal nerve block with lidocaine infiltration;intubated general anesthesia with propofol IV, rocuronium IV ,sevoflurane and N2O gas
17 Spontaneous Pneumothorax in Children Recruiting NCT02573285
18 Study Designed to Optimize the Treatment of Primary Pneumothorax Recruiting NCT02866305 Early Phase 1 Epidural
19 Comparing Efficacy of Chest Tube Drainage and Needle Aspiration in Pneumothorax Treatment Recruiting NCT03293199
20 Wedge Resection or Parietal Pleurectomy for the Treatment of Recurrent Pneumothorax (WOPP) Recruiting NCT01855464
21 Primary Versus Delayed Surgical Therapy for Pediatric Spontaneous Pneumothorax Active, not recruiting NCT02449980
22 PCL (Poly-ε-caprolactone) Mesh Pleurodesis Not yet recruiting NCT03227978 Early Phase 1
23 Chronic Pain After Video-assisted Thoracoscopic Surgery (VATS) Surgery for Pneumothorax Terminated NCT00969423

Search NIH Clinical Center for Pneumothorax, Primary Spontaneous

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Pneumothorax, Primary Spontaneous

Genetic tests related to Pneumothorax, Primary Spontaneous:

id Genetic test Affiliating Genes
1 Pneumothorax, Primary Spontaneous 29
2 Spontaneous Pneumothorax 29 24 FLCN

Anatomical Context for Pneumothorax, Primary Spontaneous

MalaCards organs/tissues related to Pneumothorax, Primary Spontaneous:

39
Lung, Colon, Skin

Publications for Pneumothorax, Primary Spontaneous

Variations for Pneumothorax, Primary Spontaneous

UniProtKB/Swiss-Prot genetic disease variations for Pneumothorax, Primary Spontaneous:

71
id Symbol AA change Variation ID SNP ID
1 FLCN p.Glu132Lys VAR_066024
2 FLCN p.His429Tyr VAR_066028 rs375082054

ClinVar genetic disease variations for Pneumothorax, Primary Spontaneous:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FLCN NM_144997.6(FLCN): c.1285dup (p.His429Profs) duplication Pathogenic rs80338682 GRCh37 Chromosome 17, 17119709: 17119709
2 FLCN NM_144997.5(FLCN): c.235_238delTCGG (p.Ser79Thrfs) deletion Pathogenic rs750146811 GRCh37 Chromosome 17, 17131214: 17131217
3 FLCN NM_144997.5(FLCN): c.1533_1536delGATG (p.Trp511Terfs) deletion Pathogenic rs886037608 GRCh37 Chromosome 17, 17118301: 17118304
4 FLCN NM_144997.5(FLCN): c.404delC (p.Pro135Leufs) deletion Pathogenic rs886037609 GRCh37 Chromosome 17, 17127450: 17127450
5 FLCN NM_144997.5(FLCN): c.1156_1175del20 (p.Ser386Aspfs) deletion Pathogenic rs886037610 GRCh37 Chromosome 17, 17120384: 17120403
6 FLCN NM_144997.5(FLCN): c.872-?_c.1740+?del deletion Pathogenic
7 FLCN NM_144606.5(FLCN): c.779G> A (p.Trp260Ter) single nucleotide variant Pathogenic rs368778627 GRCh37 Chromosome 17, 17125815: 17125815
8 FLCN NM_144997.5(FLCN): c.469_471delTTC (p.Phe157del) deletion Pathogenic/Likely pathogenic rs786203218 GRCh37 Chromosome 17, 17127383: 17127385

Expression for Pneumothorax, Primary Spontaneous

Search GEO for disease gene expression data for Pneumothorax, Primary Spontaneous.

Pathways for Pneumothorax, Primary Spontaneous

GO Terms for Pneumothorax, Primary Spontaneous

Sources for Pneumothorax, Primary Spontaneous

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65 SNOMED-CT via HPO
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70 UMLS via Orphanet
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